February 2025 in “Journal of Paediatrics and Child Health” Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
46 citations
,
March 2005 in “Endocrinology” Overexpression of the glucocorticoid receptor in mice causes developmental defects similar to ectodermal dysplasia.
6 citations
,
January 2025 in “Differentiation” WNT10A is a secreted glycoprotein crucial for ectodermal organogenesis and tissue regeneration, with its significance first noted in 2006 in relation to cleft lip and palate. This review details the WNT10A gene and protein structure, expression patterns across species, and its roles in tissue and organ development. It highlights the connection between WNT10A loss-of-function mutations and human disorders such as ectodermal dysplasia syndromes, Odonto-oncho-dermal dysplasia, Schöpf-Schulz-Passarge syndrome, and selective tooth agenesis. Additionally, it discusses the association of increased WNT10A activity with conditions like fibrosis and carcinogenesis.
2 citations
,
January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.